Diabetes Mellitus, Transient Neonatal, 1 |
|
Intrauterine growth retardation, Hyperglycemia, Dehydration, Transient neonatal diabetes mellitus |
OMIM:601410 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, De... |
ORPHA:99886 |
Chronic Hiccup |
|
Dehydration, Abnormal eating behavior |
ORPHA:396 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Dehydration |
ORPHA:79159 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Intrauterine growth retardation, Hypoglycemia, Dehydration, Dysphagia |
OMIM:618958 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Dehydration |
OMIM:251850 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71529 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intrauterine growth retardation, Hyperactivity, Obesity, Aggressive behavior |
OMIM:620270 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Obesity, Growth delay, Delayed puberty, Failure to thrive, Polyphagia, ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Obesity, Growth delay, Delayed puberty, Failure to thrive, Polyphagia, ... |
ORPHA:71526 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Short stature, Obesity |
OMIM:619058 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Severe postnatal growth retardation, Pituitary dwarfism, Short stature, Hypoglycemia |
OMIM:262700 |
Familial Renal Glucosuria |
|
Insulin resistance, Moderate postnatal growth retardation, Dehydration, Glycosuria, Hyperglycemia... |
ORPHA:69076 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Severe short stature, Hypoglycemia |
OMIM:223500 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Combined Malonic And Methylmalonic Acidemia |
|
Hypoglycemia, Dehydration |
ORPHA:289504 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Short stature, Aggressive behavior, Large for gestational age, Growth delay, Self-injurious behav... |
OMIM:616116 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Short stature, Obesity, Aggressive behavior |
ORPHA:329249 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity, Tall stature |
OMIM:618406 |
Central Diabetes Insipidus |
|
Polydipsia, Dehydration, Anorexia |
ORPHA:178029 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Small for gestational age, Short stature, Postnatal growth retardation, Severe intrauterine growt... |
ORPHA:231144 |
Syndromic X-Linked Intellectual Disability 7 |
|
Short stature, Obesity |
ORPHA:85274 |
Obesity And Hypopigmentation |
|
Polyphagia, Overgrowth, Obesity |
OMIM:620195 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Short stature, Obesity |
ORPHA:3055 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Enteric Anendocrinosis |
|
Type I diabetes mellitus, Dehydration |
ORPHA:83620 |
Leptin Receptor Deficiency |
|
Short stature, Abnormal eating behavior, Aggressive behavior, Obesity, Delayed puberty, Polyphagia |
OMIM:614963 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Dehydration |
OMIM:616069 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Cystinosis |
|
Short stature, Dehydration, Delayed puberty, Type I diabetes mellitus, Polydipsia, Abnormal repet... |
ORPHA:213 |
Familial Cold Urticaria |
|
Polydipsia, Dehydration |
ORPHA:47045 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Polyhydramnios, Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia |
OMIM:240900 |
11P15.4 Microduplication Syndrome |
|
Obesity, Aggressive behavior |
ORPHA:300305 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Glucose/Galactose Malabsorption |
|
Abnormal oral glucose tolerance, Hypertonic dehydration, Glycosuria |
OMIM:606824 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature |
OMIM:618160 |
Carnitine Deficiency, Systemic Primary |
|
Impaired gluconeogenesis, Recurrent hypoglycemia, Dehydration |
OMIM:212140 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dehydration, Anorexia |
ORPHA:79312 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Growth delay, Hyperglycemia, Hypoglycemia, Dehydration |
OMIM:615453 |
Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Anorexia, Edema, Dehydration, Agitation, Oral aversion, Hyperglycemia |
ORPHA:134 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Dehydration |
OMIM:214150 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Overweight, Recurrent hand flapping, Pica, Tall stature |
OMIM:615032 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity |
OMIM:608320 |
Propionic Acidemia |
|
Short stature, Dehydration, Hypoglycemia |
OMIM:606054 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Dehydration |
OMIM:602722 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Polyphagia, Obesity, Aggressive behavior |
OMIM:616521 |
Reticular Dysgenesis |
|
Dehydration |
ORPHA:33355 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Short stature, Obesity, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Temple Syndrome |
|
Short stature, Small for gestational age, Postnatal growth retardation, Obesity, Polyphagia |
ORPHA:254516 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Short stature, Obesity |
ORPHA:177910 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia, Obesity |
OMIM:614962 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Growth delay, Increased body mass index, Omphalocele, Increased body weight |
OMIM:614450 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Biemond Syndrome Type 2 |
|
Short stature, Obesity, Delayed puberty |
ORPHA:141333 |
Early-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Dehydration |
ORPHA:556030 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration |
ORPHA:103910 |
Harlequin Ichthyosis |
|
Self-injurious behavior, Dehydration |
ORPHA:457 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Obesity |
OMIM:614651 |
Corticosterone Methyloxidase Type I Deficiency |
|
Growth delay, Dehydration |
OMIM:203400 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Growth delay, Dehydration |
OMIM:610600 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Large for gestational age, Postnatal growth retardation, ... |
ORPHA:254534 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Short stature, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity |
ORPHA:3077 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Polyhydramnios, Dehydration, Growth delay, Intrauterine growth retardation, Neonatal ... |
OMIM:616271 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Dehydration |
OMIM:560000 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Short stature, Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Growth delay, Attention def... |
OMIM:620211 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
14Q11.2 Microduplication Syndrome |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Postnatal growth retardation, Intrauterine growth retardation, Obesity |
ORPHA:254525 |
Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hypoglycemia, Dehydration |
OMIM:251000 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Secondary Short Bowel Syndrome |
|
Growth delay, Polyphagia, Dehydration |
ORPHA:95427 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Lamellar Ichthyosis |
|
Short stature, Dehydration |
ORPHA:313 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Short stature, Dehydration, Growth delay, Ascites |
ORPHA:1667 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Inappropriate laughter, Obesity |
ORPHA:411515 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Short stature, Hypertonic dehydration |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Short stature, Hypertonic dehydration |
OMIM:304800 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Intrauteri... |
ORPHA:412035 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Attention deficit hyperactivity disorder, Increased body weight, Impulsivity |
ORPHA:589905 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Anorexia, Dehydration, Growth delay, Compulsive behaviors, Abnormal temper tantrums... |
ORPHA:3008 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration |
OMIM:264350 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Anorexia, Edema, Dehydration, Recurrent hypoglycemia |
ORPHA:20 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
Smith-Magenis Syndrome |
|
Hyperactivity, Short stature, Self hugging, Increased body weight, Head-banging, Onychotillomania... |
OMIM:182290 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
Autosomal Agammaglobulinemia |
|
Dehydration |
ORPHA:33110 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia, Dehydration |
ORPHA:230 |
Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Agitation, Increased body weight |
ORPHA:276608 |
Temple Syndrome |
|
Short stature, Small for gestational age, Overweight, Flexion contracture, Obesity, Truncal obesi... |
OMIM:616222 |
Netherton Syndrome |
|
Short stature, Dehydration |
ORPHA:634 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Proportionate short stature, Dehydration |
ORPHA:171876 |
Dend Syndrome |
|
Hyperglycemia, Dehydration |
ORPHA:79134 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Short stature, Polyhydramnios, Anorexia, Growth delay, Polydipsia |
ORPHA:223 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Short stature, Aggressive behavior, Obesity, Self-injurious behavior, Skin-picking... |
OMIM:600430 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
Laurence-Moon Syndrome |
|
Short stature, Obesity |
OMIM:245800 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
Adrenal Hypoplasia, Congenital |
|
Dehydration, Delayed puberty |
OMIM:300200 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder |
OMIM:274300 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Small for gestational age, Postnatal growth retardation, Obesity, Truncal obesity,... |
ORPHA:96184 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Obesity, Stereotypical hand wringing |
OMIM:619854 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Dehydration, Oligohydramnios |
OMIM:208085 |
Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Polydipsia, Polyphagia, Obesity |
OMIM:615986 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Growth delay, Polyhydramnios, Dehydration |
OMIM:214700 |
Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Obesity |
OMIM:617885 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Short stature, Obesity |
OMIM:612463 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Dehydration, Oligohydramnios |
OMIM:263200 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Congenital Myopathy 9A |
|
Short stature, Obesity |
OMIM:618822 |
Alternating Hemiplegia Of Childhood |
|
Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Dehydration, Dysphagia |
ORPHA:2131 |
Renal Hypoplasia |
|
Polydipsia, Dehydration |
ORPHA:93101 |
Infantile Nephropathic Cystinosis |
|
Growth delay, Polydipsia, Dehydration, Glycosuria |
ORPHA:411629 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal insulin-dependent diabetes mellitus, Postnatal growth retardation, Dehydration, Intraute... |
ORPHA:96191 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Short stature, Obesity |
ORPHA:2234 |
Shigellosis |
|
Hypoglycemia, Dehydration, Anorexia |
ORPHA:810 |
Luscan-Lumish Syndrome |
|
Short stature, Aggressive behavior, Obesity, Overgrowth, Polyphagia |
OMIM:616831 |
Cholera |
|
Hypoglycemia, Dehydration |
ORPHA:173 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Dehydration, Glycosuria, Intrauterine growth retard... |
ORPHA:99885 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Neonatal hypoglycemia, Dehydration |
ORPHA:90791 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypoglycemia, Hydrops fetalis, Dehydration, Growth delay, Intrauterine growth retardation |
ORPHA:79282 |
Proximal Renal Tubular Acidosis |
|
Mild postnatal growth retardation, Short stature, Dehydration, Growth delay, Glycosuria, Polydipsia |
ORPHA:47159 |
Angelman Syndrome Due To A Point Mutation |
|
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... |
ORPHA:411511 |
Pearson Syndrome |
|
Diabetes mellitus, Postnatal growth retardation, Hydrops fetalis, Dehydration, Growth delay, Corn... |
ORPHA:699 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
Congenital Tufting Enteropathy |
|
Dehydration |
ORPHA:92050 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Increased body weight, Aggressive behavior |
OMIM:300860 |
Pearson Marrow-Pancreas Syndrome |
|
Type I diabetes mellitus, Hydrops fetalis, Dehydration, Anorexia |
OMIM:557000 |
Cystinosis, Nephropathic |
|
Diabetes mellitus, Short stature, Oral-pharyngeal dysphagia, Dehydration, Dysphagia, Growth delay... |
OMIM:219800 |
Wilson Disease |
|
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Failure to thrive |
ORPHA:905 |
Oligomeganephronia |
|
Polydipsia, Dehydration |
ORPHA:2260 |
Juvenile Nephropathic Cystinosis |
|
Growth delay, Polydipsia, Dehydration, Glycosuria |
ORPHA:411634 |
Methylmalonic Aciduria, Cblb Type |
|
Dehydration |
OMIM:251110 |
Distal Renal Tubular Acidosis |
|
Growth delay, Polydipsia, Short stature, Dehydration |
ORPHA:18 |
Abcd Syndrome |
|
Neonatal death, Large for gestational age |
OMIM:600501 |
Vipoma |
|
Diabetes mellitus, Ascites, Dehydration, Anorexia |
ORPHA:97282 |
Neuroleptic Malignant Syndrome |
|
Agitation, Dehydration, Dysphagia |
ORPHA:94093 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Dehydration, Delayed puberty |
ORPHA:168558 |
Methylmalonic Aciduria, Cbla Type |
|
Dehydration |
OMIM:251100 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Dehydration, Delayed puberty |
ORPHA:289548 |
Oculocerebrorenal Syndrome Of Lowe |
|
Short stature, Dehydration, Joint swelling, Self-injurious behavior, Attention deficit hyperactiv... |
ORPHA:534 |
Primary Fanconi Renotubular Syndrome |
|
Growth delay, Hypoglycemia, Dehydration, Glycosuria |
ORPHA:3337 |
Osteootohepatoenteric Syndrome |
|
Dehydration |
OMIM:619377 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Dorsocervical fat pad, Increased body weight |
OMIM:615830 |
Insulinoma |
|
Polyphagia, Increased body weight |
ORPHA:97279 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Obesity |
OMIM:609734 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Short stature, Impulsivity, Flexion contracture, Increased body weight, Abdominal obesity, Abnorm... |
ORPHA:398069 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Agitation, Increased body weight, Large for gestational age |
ORPHA:263455 |
Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Abnormal dental enamel morphology, Obesity, Delayed puberty, Polyphagia |
ORPHA:251004 |
Colchicine Poisoning |
|
Dehydration |
ORPHA:31824 |
Netherton Syndrome |
|
Hypernatremic dehydration, Angioedema |
OMIM:256500 |
Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Severe postnatal growth retardation, Short stature, Severe intrauterine growth retardation, Obesity |
ORPHA:319675 |
Marburg Hemorrhagic Fever |
|
Aggressive behavior, Hypoglycemia, Dehydration, Anorexia |
ORPHA:99826 |
Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Short stature, Polyhydramnios, Dehydration |
OMIM:241200 |
Microsporidiosis |
|
Dehydration, Anorexia |
ORPHA:2552 |
Lysosomal Acid Lipase Deficiency |
|
Ascites, Dehydration |
ORPHA:275761 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Failure to thrive, Short stature, Small for gestational age, Bulimia, Obesity, Self-injurious beh... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Failure to thrive, Short stature, Small for gestational age, Bulimia, Obesity, Self-injurious beh... |
ORPHA:177901 |
1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Short stature, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal tem... |
ORPHA:98754 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Large for gestational age, Postnatal growth retardation, Overgrowth... |
ORPHA:254519 |
Sotos Syndrome |
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Aggressive behavior, Increased body weight, Overgrowth, Attention deficit hyperactivity disorder,... |
OMIM:117550 |
Congenital Analbuminemia |
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Lipodystrophy, Small for gestational age, Obesity |
ORPHA:86816 |
Hyperoxaluria, Primary, Type I |
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Dehydration |
OMIM:259900 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration |
ORPHA:90038 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Growth delay, Edema, Dehydration |
ORPHA:79404 |
Bartter Syndrome, Type 1, Antenatal |
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Short stature, Polyhydramnios, Dehydration |
OMIM:601678 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Neonatal hypoglycemia, Short stature, Dehydration |
ORPHA:90794 |
Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Short stature, Increased body weight, Growth delay, Delayed puberty, Failure to thrive |
ORPHA:264580 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Postnatal growth retardation, Short stature, Increased body weight |
ORPHA:79240 |
Multiple Endocrine Neoplasia Type 1 |
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Dehydration, Anorexia |
ORPHA:652 |
Bartter Syndrome Type 4 |
|
Polyhydramnios, Dehydration |
ORPHA:89938 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Abdominal obesity, Dorsocervical fat pad, Increased body weight |
ORPHA:189427 |
Adrenocortical Carcinoma |
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Increased body weight, Weight loss |
ORPHA:1501 |
Cystic Fibrosis |
|
Dehydration |
OMIM:219700 |
Prader-Willi Syndrome Due To Translocation |
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Short stature, Obesity, Head-banging, Compulsive behaviors, Attention deficit hyperactivity disor... |
ORPHA:177907 |
Insulin-Resistance Syndrome Type B |
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Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
Hellp Syndrome |
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Increased body weight |
ORPHA:244242 |
Cushing Disease |
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Truncal obesity, Abdominal obesity, Dorsocervical fat pad, Increased body weight |
ORPHA:96253 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Dorsocervical fat pad, Anorexia, Increased body weight, Weight loss, Truncal obesity, Abdominal o... |
ORPHA:99889 |
Carney Complex |
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Abdominal obesity, Dorsocervical fat pad, Increased body weight, Tall stature |
ORPHA:1359 |